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Sequence Polymorphisms

Links to various sequence polymorphism databases and resources concerning SNPs, short deletion, insertion polymorphisms and other unique genomic features.

Found 66 links

Displaying 15 links

ALFRED: an allele frequency resource for research and teaching. Designed to make allele frequency data on human population samples readily available for use by the scientific and educational communities.

Goal is to determine the gene expression profiles of normal, precancer, and cancer cells; resources for human and mouse include ESTs, gene expression patterns, SNPs, cluster assemblies, cytogenetic information, and tools to query and analyze the data.

Diseases and traits in linkage disequilibrium (LD) blocks. Data from HapMap Project is used to partition chromosomal regions which are associated with a disease into LD blocks. This allows researchers to answer the question of which SNPs associated with diseases are in LD with a gene of interest?

g:Profiler is a set of tools for functional annotation of gene lists that includes: g:GOSt, which retrieves the most significant Gene Ontology (GO) terms, KEGG and REACTOME pathways, and TRANSFAC motifs; g:Convert, for conversion between gene or protein names/IDs; g:Orth, for retrieving orthologs; and, g:Sorter, which searches for similar expression profiles. Functional analysis of SNPs and other DNA polymorphisms is also supported, as is enrichment analysis.

Resource for exploring annotations of noncoding genome at variants on haplotype blocks, such as candidate regulatory SNPs at disease-associated loci. Linked SNPs and small indels can be visualized along with their predicted chroatin state.

Human Genome Variation database - curated; attempt to summarize all known sequence variations in the human genome, to facilitate research into how genotypes affect common diseases, drug responses, and other complex phenotypes.

A web base approach to homozygosity mapping. Users upload SNP genotype or sequencing files for analysis and detection of long homozygous stretches between affected individuals. Human, rodent and other mammals are mappable.